Canonical Allele Identifier: CA8814398

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80090216_80090279del , CM000679.2:g.80090216_80090279del	GRCh38
NC_000017.10:g.78064015_78064078del , CM000679.1:g.78064015_78064078del	GRCh37
NC_000017.9:g.75678610_75678673del	NCBI36
NG_029761.1:g.58585_58648del

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.2832+332_2832+395del MANE Select	NP_060420.2:n.2832+332_2832+395del
ENST00000397545.9:c.2832+332_2832+395del MANE Select	ENSP00000380679.4:n.2832+332_2832+395del
NM_001243342.1:c.2910_2973del	NP_001230271.1:p.Lys970AsnfsTer?
NM_001243342.2:c.2910_2973del	NP_001230271.1:p.Lys970AsnfsTer?
NM_017950.3:c.2832+332_2832+395del	NP_060420.2:n.2832+332_2832+395del
ENST00000374877.7:c.2910_2973del	ENSP00000364011.3:p.Lys970AsnfsTer?
ENST00000397545.8:c.2832+332_2832+395del	ENSP00000380679.4:n.2832+332_2832+395del
ENST00000572253.5:n.3083+332_3083+395del
ENST00000573903.1:n.494+332_494+395del
ENST00000574799.5:n.2369+332_2369+395del
ENST00000575431.1:n.476+332_476+395del
XM_011524963.1:c.2742+332_2742+395del	XP_011523265.1:n.2742+332_2742+395del
XM_011524963.3:c.2742+332_2742+395del	XP_011523265.1:n.2742+332_2742+395del
XM_011524964.1:c.1653+332_1653+395del	XP_011523266.1:n.1653+332_1653+395del
XM_011524964.3:c.1653+332_1653+395del	XP_011523266.1:n.1653+332_1653+395del
XM_024450821.1:c.2742+332_2742+395del	XP_024306589.1:n.2742+332_2742+395del
XR_934495.2:n.2950+332_2950+395del